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AIMS: Evaluate the seasonal influence in nonsyndromic cleft lip and/or palate (NSCL/P) in Brazilian patients. METHODS: A case-control study, with 361 unrelated patients with NSCL/P and 481 healthy individuals, was done on a reference service for craniofacial deformities in Minas Gerais State, Brazil. Information was collected from clinical records considering gender, month of birth, as well as with the seasons. RESULTS: Nonparametric tests did not show a seasonal variation in month of birth and in seasons of year of NSCL/P compared to a control group (p = 0.902 and p = 0.679, respectively). A difference in births between the groups was identified only in January, however, was not significant. Moreover, among the control group there were more births in the months of February and August, and for the cleft group, more in July and August. The males were more affected by cleft lip with or without palate (CLP) and the females by isolated cleft palate (CP) manifestation. The ratio of CL:CLP:CP indicated that CLP was predominant when compared with CL and CP, CLP was more frequent in male patients, and CP predominance was seen in females. CONCLUSION: This study did not show seasonal differences in births on NSCL/P in a Brazilian group, emphasizing that environmental factors may be related to oral clefts. These results provide a basis for further epidemiological studies of orofacial clefts in Brazil.

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OBJECTIVE: The objective of this work was to analyse the levels of dermatoglyphic asymmetry between both parents and individuals with non-syndromic cleft lip and/or palate (NSCL/P) and unaffected control trios. METHODS: A case-control analysis was carried out of 51 affected trios (unaffected parents and NSCL/P subjects), and 50 unaffected control trios. Finger and palm prints were taken from each participant, and dermatoglyphic patterns, the number of lines on the digits, and the palmar angles were recorded. To determine the level of fluctuating asymmetry the case group was compared with the control group, significance accepted at p ≤ 0.05. RESULTS: There was a statistically significant difference between the atd angles (angle between the lines triradii a and t and triradii t and d) of fathers of those affected by NSCL/P, and the dermatoglyphic patterns of the affected mothers, with significantly more arches in the control group. However, in this study, multiple comparisons were used, and the results must be evaluated as initial findings and evaluated carefully since the significance disappears after correction for multiple comparisons. Other parameters did not differ between groups. There was no difference in parameters among patients affected by NSCL/P. CONCLUSIONS: Based on these results it is speculated that the mechanisms responsible for the formation of NSCL/P may be associated with those responsible for deviations in the asymmetry of the atd angles in the fathers and dermatoglyphic patterns of the mothers of affected patients. Besides, further studies are required to determine the real relationship between these conditions.

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Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

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RESUMO

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

A síndrome de Wolf-Hirschhorn (WHS) é uma condição genética caracterizada por anomalias craniofaciais e sistêmicas, causada por deleção cromossômica na região 4p. Paciente de 3 meses de idade, gênero feminino, foi encaminhada para avaliação de fissura de lábio e fissura palatina, associada a uma síndrome não diagnosticada. A paciente apresentava-se com hipotonia, baixa estatura, malformação cardíaca, clitóris hipertrofiado e implantação atípica do polegar nas duas mãos. Microcefalia, baixa implantação da orelha, glabela proeminente, inclinação baixa das fissuras palpebrais, aparência característica de capacete de guerreiro grego, micrognatia, fossetas em orelhas, fissura labial bilateral incompleta e fissura palatina incompleta foram observadas como características craniofaciais. Com um diagnóstico clínico de WHS, foi realizado o cariótipo, que mostrou a deleção 4p15.2, consistente com a condição. Esse relato de caso apresenta um caso de WHS, com uma fissura oral incomum, ampliando o espectro fenotípico da doença. A paciente foi encaminhada a tratamento com equipe multidisciplinar para correção cirúrgica da fissura labial e palatina. Encontra-se em acompanhamento médico bem como odontológico, fisioterapêutico e em terapia ocupacional e psicológica. Uma correlação entre genótipo e fenótipo pode ser observada nesse relato da síndrome de WHS.

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OBJECTIVE: The purpose of the present study was to investigate the expression of the α2-integrin subunit and heat shock protein 47 (Hsp47) in two families with isolated gingival fibromatosis (GF) form and one family with GF associated with dental abnormalities and normal gingival (NG). STUDY DESIGN: Immunohistochemistry was performed with antibodies against α2-integrin and Hsp47 in specimens from two unrelated families with hereditary gingival fibromatosis (Families 1 and 2) and from one family with a gingival fibromatosis-associated dental abnormality (Family 3); NG samples were used for comparison. The results were analysed statistically. RESULTS: Immunoreactivity for α2-integrin and Hsp47 was observed in the nucleus of epithelial cells of both the basal and suprabasal layer and a more discreet signal was noted in connective tissue in all study samples. Hsp47 showed higher immunoreactivity in Family 2 compared with the other families (p ≤ 0.05). Despite the markup α2-integrin was higher in Family 3 there was no statistically significant difference between the families studied (p ≥ 0.05). CONCLUSIONS: Our results confirmed the heterogeneity of GF, such that similar patterns of expression of the condition may show differences in the expression of proteins such as Hsp47. Although no difference in α2-integrin expression was observed between GF and NG groups, future studies are necessary to determine the exact role of this protein in the various forms of GF and whether it contributes to GF pathogenesis.

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